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Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita

Dyskeratosis congenita (DC) is a genetic disorder of defective tissue maintenance and cancer predisposition caused by short telomeres and impaired stem cell function. Telomerase mutations are thought to precipitate DC by reducing either the catalytic activity or the overall levels of the telomerase...

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Detalhes bibliográficos
Main Authors: Zhong, Franklin, Savage, Sharon A., Shkreli, Marina, Giri, Neelam, Jessop, Lea, Myers, Timothy, Chen, Renee, Alter, Blanche P., Artandi, Steven E.
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3012932/
https://ncbi.nlm.nih.gov/pubmed/21205863
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gad.2006411
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